Human Chromosome Methodology

Human Chromosome Methodology serves as an authoritative guide to cytogenetic techniques. This book presents each phase of laboratory work from preparation of materials for the X and Y bodies to application of other laboratory techniques including chromosome identification, autoradiography, and dermatoglyphics. The text also describes the structure and molecular organization of chromosomes and the advances in the automation of chromosome analysis. It provides a thorough review of the clinical manifestations of chromosome disorders. Organized into 13 chapters, the book presents the illustrated and diagrammatic examples and discussions of the subject matter and detailed tables and charts for learning efficiency. It also provides outlined presentation of cytogenetic procedures and notes and comments for each procedure that will assist readers in erroneous work phases. Moreover, it gives thorough lists of references in each chapter for further reading. This reference will be useful for research professionals, lecturers, genetics and molecular biology students, and members of the medical profession involved in genetics.

List of Contributors

Preface

Preface to First Edition

1 Structure and Molecular Organization of Chromosomes

Text

References

2 Identification of Human Chromosomes

I. Introduction

II. Terms Used in the Identification of Human Chromosomes

III. Standardization of Nomenclature

IV. Recommendations of the Paris Conference

V. The Use of the Paris Conference Nomenclature in Clinical Cytogenetics

References

3 Quinacrine Fluorescent Patterns

I. Introduction

II. Procedure

References

4 Staining Constitutive Heterochromatin and Giemsa Crossbands of Mammalian Chromosomes

I. Introduction

II. Cell Harvest and Slide Preparations

III. C-Banding

IV. G-Banding

References

5 Sex Chromatin Bodies

I. Introduction

II. Discovery and Nomenclature

III. Appearance of Barr Bodies

IV. Numbers of Barr Bodies per Cell

V. Origin and Nature of Barr Bodies

VI. Appearance and Nature of Drumsticks

VII. Fluorescent Y Bodies

VIII. Techniques

References

6 Human Peripheral Blood Leukocyte Cultures

I. General

II. The Mononuclear Leukocyte as the Mitotic Cell in Culture

III. Collection of Peripheral Blood Leukocytes and Preparation of Cell Inoculum

IV. Initiation of Mitosis in Blood Cultures: The Role of Phytohemagglutinin and Other Potentially Mitogenic Agents

V. Influence of Culture Conditions on Cell Proliferation

VI. Preparation of Metaphase Spreads for Cytogenetic Studies

VII. Life Span of PHA-Initiated Cultures: Evidence for Secondary Mitoses in Culture

VIII. Further Application of the Leukocyte Culture System

IX. Methods for Culturing Human Peripheral Blood Leukocytes

References

7 Autoradiography of Human Chromosomes

I. Introduction

II. Principles of Methodology

III. Autoradiography in Combination with Other Techniques

IV. The Study of DNA Synthesis with Precursors Other Than Thymidine and of the Synthesis of RNA and Chromosomal Proteins

V. Technical Schedules

VI. Equipment and Materials for Autoradiography

References

8 Direct Chromosome Preparation of Bone Marrow Cells

I. Introduction

II. Procedures

III. Discussion

References

9 Skin Culture and Solid Tumor Technique

I. Introduction

II. Skin Culture

III. Solid Tumor Techniques

Appendix: Notes on Media and Materials

References

10 Amniotic Cell Culture

I. Introduction

II. Methodology

III. Discussion

References

11 Clinical Manifestations of Chromosome Disorders

I. Introduction

II. Autosomal Chromosome Abnormalities

III. Sex Chromosomal Abnormalities

IV. Chromosome Abnormalities in Spontaneous Abortion

V. Chromosomes and Cancer

VI. Diseases Associated with Spontaneous Chromosome Aberrations

VII. Radiation, Viruses, and Chemical Clastogens

References

12 Dermatoglyphics and Chromosomal Aberrations

I. Introduction

II. Classification of Dermatoglyphics

III. Flexion Creases

IV. Recording Dermatoglyphics and Creases

V. Dermatoglyphics in Clinical Disorders

VI. Clinical Applications of Dermatoglyphics: Advantages and Limitations

References

13 Chromosome Identification by Image Analysis and Quantitative Cytochemistry

I. Introduction

II. Cytochemistry

III. Scanning

IV. Image Analysis

V. Results

VI. Conclusion and Perspectives

Appendix: Staining Procedures Used for DNA Cytophotometry of Metaphase Chromosomes

References

Author Index

Subject Index